Shortpetersson0401

Common variable immunodeficiency disorders (CVID) is characterized by low/absent serum immunoglobulins and susceptibility to bacterial infection. Patients can develop an infections-only phenotype or a complex disease course with inflammatory, autoimmune, and/or malignant complications. We hypothesized that deficient DNA repair mechanisms may be responsible for the antibody deficiency and susceptibility to inflammation and cancer in some patients.

Germline variants were identified following targeted sequencing of n = 252 genes related to DNA repair in n = 38 patients. NanoString nCounter PlexSet assay measured gene expression in n = 20 CVID patients and n = 7 controls. DNA damage and apoptosis were assessed by flow cytometry in n = 34 CVID patients and n = 11 controls.

Targeted sequencing supported enrichment of rare genetic variants in genes related to DNA repair pathways with novel and rare likely pathogenic variants identified and an altered gene expression signature that distinguished patients from controls and complex patients from those with an infections-only phenotype. Consistent with this, flow cytometric analyses of lymphocytes following DNA damage revealed a subset of CVID patients whose immune cells have downregulated ATM, impairing the recruitment of other repair factors, delaying repair and promoting apoptosis.

These data suggest that germline genetics and altered gene expression predispose a subset of CVID patients to increased sensitivity to DNA damage and reduced DNA repair capacity.

These data suggest that germline genetics and altered gene expression predispose a subset of CVID patients to increased sensitivity to DNA damage and reduced DNA repair capacity.Tricuspid regurgitation is associated with a poor outcome and its quantification remains a challenge. Selleckchem BMS-986165 Tricuspid annulus dilatation is one of the parameters that influences clinical decision-making. The aim of this study was to compare the use of 2D transoesophageal echocardiography with surgical assessment for the measurement of the tricuspid annulus. Sixty-one cardiac patients (median age 64 years) were included in the study. Echocardiographic tricuspid annulus measurements were obtained from four chamber and transgastric short axis views and compared with the surgical measurements of this valve. The study was approved by the Ethics Committee of our institution. The tricuspid annulus measurements were obtained from the four chamber and the short axis views in 57 and 49 patients, respectively, while surgical measurement was performed in all 61 patients. Bland-Altman analysis of 49 tricuspid annulus-matched dimensions of the short axis view and surgical values showed a mean bias of 0.223 mm/m2, with limits of agreement of -5.86 to 6.31 mm/m2. Echocardiographic measurements of the tricuspid annulus dimension were accurate (90% sensitivity and 90% specificity for a four chamber view cut-off value ≥ 24.5 mm/m2, and 89% sensitivity and 97% specificity for a short axis view cut-off value ≥ 37.6 mm/m2, P  less then  0.0001; both cases) for detecting directly assessed annular dilatation by the surgeon in the operative field. Echocardiographic values of tricuspid annulus dimension have a good predictive value to detect surgically assessed annular dilatation and may help identify patients who require surgical tricuspid intervention.

Studies on the effects of I-131 therapy on pregnancy outcomes after differentiated thyroid carcinoma (DTC) surgery showed inconsistent findings. The purpose of the study was to investigate the association between I-131 therapy and pregnancy outcomes in female DTC patients.

PubMed, Embase, Cochrane Library, CNKI, and VIP were searched until November, 2020. Keywords included differentiated thyroid cancer, thyroid carcinoma, thyroid neoplasm, radioiodine, I-131,

I, pregnancy outcomes, reproduction, fertility, abortion, preterm birth, and congenital malformation. Studies that provided the pregnancy outcomes in DTC patients who received I-131 therapy and those who did not receive I-131 therapy were included. Meta-analysis was performed in Stata/SE 12. A random or fixed effects model was adopted according to the result of heterogeneity test.

Seven observational studies were eligible, involving 125,591 participants and 13,811 pregnancies. It showed that postoperative I-131 therapy for DTC had no significant effect on spontaneous abortion (OR = 1.05, P = 0.701), induced abortion (OR = 1.06, P = 0.859), abortion (OR = 1.07, P = 0.098), premature birth (OR = 1.02, P = 0.756), stillbirth (OR = 1.58, P = 0.364), and congenital malformation(OR = 1.00, P = 0.986). Cumulative RAI dose >3.7 GBq or <3.7 GBq had no significant effect on abortion (OR = 0.94, P = 0.252) and congenital malformation (OR = 1.05, P = 0.752).The group in which interval time between last I-131 therapy and pregnancy >1 year had significant lower risk of abortion than with interval <1 year (OR = 0.60, P = 0.000).

Pregnancy is not recommended for DTC patients within 1 year after I-131 therapy.

Pregnancy is not recommended for DTC patients within 1 year after I-131 therapy.In the last two decades, relevant progress has been made in the diagnosis of musculoskeletal tumors due to the development of new imaging tools, such as diffusion-weighted imaging, diffusion kurtosis imaging, magnetic resonance spectroscopy, and diffusion tensor imaging. Another important role has been played by the development of artificial intelligence software based on complex algorithms, which employ computing power in the detection of specific tumor types. The aim of this article is to report the most advanced imaging techniques focusing on their advantages in clinical practice.In this prospective observational pilot study patients with the diagnosis of end-stage lung disease and listed for lung transplantation underwent a cognitive function test battery before and after lung transplantation to investigate postoperative cognitive function in three domains (visual and verbal memory, executive functioning, concentration/speed of processing). Additionally we investigated intraoperative risk factors for postoperative cognitive dysfunction. In total, 24 patients were included in this pilot study. The incidence of postoperative cognitive dysfunction was 58.3%. In the cognitive dysfunction group, the domains executive functioning and concentration/attention were significantly impaired whereas memory was not affected. Patients with cognitive impairment had a significantly longer ICU stay. The strongest independent risk factor for the development of cognitive dysfunction was operation time. No influence of cerebral oxygen desaturations on cognitive dysfunction was found. This might have important implications for early psychological rehabilitation strategies in this high-risk patient collective.